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Rare genetic disease under the microscope: no treatment, just answers

NCT ID NCT06217588

First seen May 11, 2026 · Last updated Jun 12, 2026 · Updated 8 times

Summary

This study aims to learn more about LCAT deficiency, a rare genetic condition that affects how the body processes fats. Researchers will collect medical records, blood and urine samples, and survey data from up to 40 participants to track how the disease progresses over time. No new treatments are being tested; the goal is to better understand the disease and identify biomarkers for future research.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

Conditions

The condition(s) this trial relates to.

cardiovascular disorder kidney disorder Lecithin Cholesterol Acyltransferase Deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.